KEGG   DISEASE: 肺静脈閉塞症/肺毛細血管腫症
エントリ  
H01866                                                             
名称    
肺静脈閉塞症/肺毛細血管腫症
概要    
Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare diseases that are classified as a subgroup of pulmonary arterial hypertension (PAH). PVOD is histologically characterized by intimal fibrosis that narrows and occludes pulmonary veins and it accounts for 5-10% of cases initially thought to be idiopathic PAH (IPAH). PCH is histologically characterized by localized capillary proliferation within the lung in which capillaries invade the pulmonary interstitium, vessels and, less commonly, airways. PCH has been reported to be much less frequent than PVOD. In recent years, PAH-targeted drugs including epoprostenol have improved the survival of patients with IPAH. PVOD/PCH has a very similar clinical presentation to PAH but is characterised by a worse prognosis and the possibility that severe pulmonary oedema can develop with specific PAH therapy. PVOD associated with a BMPR2 mutation has been reported. Recently, it has been suggested that EIF2AK4 mutations are the major cause of heritable PVOD.
カテゴリ  
循環器疾患
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  脈管疾患
   H01866  肺静脈閉塞症/肺毛細血管腫症
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  肺性心疾患または肺循環疾患
   BB01  肺高血圧
    H01866  肺静脈閉塞症/肺毛細血管腫症
指定難病 [jp08407.html]
 H01866
病因遺伝子 
(PVOD1) BMPR2 [HSA:659] [KO:K04671]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
コメント  
See also H01621 Pulmonary arterial hypertension.
リンク   
ICD-11: BB01.0
ICD-10: I27.0
MeSH: D011668 C535861
OMIM: 265450 234810
文献    
  著者
Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
  タイトル
Different sizes of centrilobular ground-glass opacities in chest high-resolution computed tomography of patients with pulmonary veno-occlusive disease and patients with pulmonary capillary hemangiomatosis.
  雑誌
Cardiovasc Pathol 22:287-93 (2013)
DOI:10.1016/j.carpath.2012.12.002
文献    
  著者
Montani D, Price LC, Dorfmuller P, Achouh L, Jais X, Yaici A, Sitbon O, Musset D, Simonneau G, Humbert M
  タイトル
Pulmonary veno-occlusive disease.
  雑誌
Eur Respir J 33:189-200 (2009)
DOI:10.1183/09031936.00090608
文献    
PMID:12446270 (BMPR2)
  著者
Runo JR, Vnencak-Jones CL, Prince M, Loyd JE, Wheeler L, Robbins IM, Lane KB, Newman JH, Johnson J, Nichols WC, Phillips JA 3rd
  タイトル
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.
  雑誌
Am J Respir Crit Care Med 167:889-94 (2003)
DOI:10.1164/rccm.200208-861OC
文献    
PMID:24292273 (EIF2AK4)
  著者
Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmuller P, Fadel E, Sitbon O, Simonneau G, Tregouet DA, Humbert M, Soubrier F
  タイトル
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
  雑誌
Nat Genet 46:65-9 (2014)
DOI:10.1038/ng.2844
LinkDB    

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